Mctp1^dwnd
Spontaneous Allele Detail

Summary

• Symbol: Mctp1^dwnd
• Name: multiple C2 domains, transmembrane 1; deaf wanderer
• MGI ID: MGI:6192114
• Gene: Mctp1 Location: Chr13:76532259-77179929 bp, + strand Genetic Position: Chr13, 40.98 cM
• Alliance: Mctp1^dwnd page

Mutation origin

• Strain of Origin: C57BL/10SnJ

Mutation description

• Allele Type: Spontaneous (Modified regulatory region, Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This 53,008 bp deletion, spanning from Chr 13: 76,815,703 bp to 76,868,709 bp deletes all of exons 11-15, 7,270 bp of flanking intron 10-11 and 40,908 bp of flanking intron 15-16, and is expected to eliminate the third C2 deomain and the two transmembrane helices, in addition to disrupting an enhancer of Nr2f1. (J:264553)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mctp1 Mutation: 58 strains or lines available

References

• Original: J:264553 Tarchini B, et al., A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development. Dev Biol. 2018 Nov 15;443(2):153-164
• All: 1 reference(s)